This week Bobbi Conner talks with Dr. Kristen Lancaster about using rapid genetic testing for hospitalized children to determine the best ways to care for them. Dr. Lancaster is a Clinical Assistant Professor of Pediatric Genetics and a genetics specialist at MUSC.
TRANSCRIPT:
Conner: I'm Bobbi Conner for South Carolina Public Radio with Health Focus here at the radio studio for the Medical University of South Carolina in Charleston. Doctors are increasingly using rapid genetic testing for very sick babies and children in the hospital to help figure out the best ways to care for these children. Doctor Kristin Lancaster is here to talk about the details. Doctor Lancaster is a Clinical Assistant Professor of PediatricGgenetics, and she's a genetics specialist at MUSC. Doctor Lancaster, tell us about this type of genetic testing and when this might be used for children in the hospital.
Dr. Lancaster: The medical team for a sick child in the hospital can consult with someone like myself, or a geneticist, and we can meet with the family to recommend a rapid genetic testing. Typically, the test we're recommending is called whole exome or whole genome sequencing, which essentially looks for any misspellings or mutations in all 20,000 genes of the body. But we specifically want to focus on genes that are associated with the patient's symptoms.
Conner: Is this testing done simply with a blood test from the child?
Dr. Lancaster: So, it can be a blood sample, but it can also be a swab even from the inside of the child's cheek.
Conner: How quickly do the results of this test come back?
Dr. Lancaster: So, on average, we can receive these results in about 7 to 10 days, but that number is improving as advances in technology improve. And sometimes we're getting results back in as little as five days. And this might not sound rapid to some people, but in the world of genetics, it actually is. In non-hospitalized children that we see in clinic, these same genetic tests can take almost two months to come back.
Conner: How is the information from this testing being used to help diagnose what's going on with that child?
Dr. Lancaster: The results of this genetic testing help us to determine if there's a mutation that is causing or contributing to their child's symptoms, and then we can apply that information to better treat the child, whether that's a specific medication or maybe a specific therapy that has been shown to help in that genetic disorder.
Conner: Can you give us some real life examples of scenarios with a child in the hospital who might need this kind of testing?
Dr. Lancaster: There are multiple presentations that might warrant rapid genetic testing in children. These could include uncontrollable seizures, heart problems, difficulty with gaining weight, low muscle tone, or something we call hypotonia, birth defects, kidney or liver failure. And then there's many others.
Conner: Is this testing also used in the neonatal intensive care unit with newborn babies who are very ill?
Dr. Lancaster: Yes. Actually, a large portion of the patients that we are doing rapid genetic testing on are for babies in the NICU or neonatal ICU. So, these babies are some of the sickest in the hospital and have a complex array of issues, most commonly birth defects or difficulty feeding are what we're seeing there.
Conner: How does this kind of testing make a difference in these sorts of scenarios?
Dr. Lancaster: We can find a genetic diagnosis in children that undergo this testing about 30 to 50% of the time. And of those patients, we can provide them not only with targeted treatment, but we can reduce the number of invasive procedures they have done and actually shorten their hospital stay. But most importantly, we can limit that family's stress and uncertainty about their child's health by providing them with an answer quickly.
Conner: Doctor Lancaster, thanks for this information about rapid genetic testing for hospitalized children.
Dr. Lancaster: You're welcome.
Conner: From the radio studio for the Medical University of South Carolina in Charleston, I'm Bobbi Conner for South Carolina Public Radio.
Health Focus transcripts are intended to accurately represent the original audio version of the program; however, some discrepancies or inaccuracies may exist. The audio format serves as the official record of Health Focus programming.
